Description |
Case-level, family segregation, or case-control data that support the gene-disease association
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Gene-level experimental evidence that support the gene-disease association |
Sum of Genetic & Experimental
Evidence
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> 2 pubs w/ convincing evidence over time (>3 yrs) |
EVIDENCE SUMMARY |
There is a definitive association between alteration of the RAF1 gene and the NS phenotype. The maximum amount of scorable genetic evidence has been published showing de novo as well as segregating variants occur in RAF1 in patients with NS (Cianci et al., 2013; Hopper, Feinstein, Manning, Benitz, & Hudgins, 2015; Kobayashi et al., 2010; Luo et al., 2012; Razzaque et al., 2007; Sana et al., 2014; Schulz, Frober, Kraus, & Schneider, 2012; Zarate et al., 2014). The RAF1 gene is also located in the Ras/MAPK pathway which is associated with the NS phenotype and variants found in NSML patients in this gene disrupt the RAS pathway function as demonstrated by mouse knock-in and rescue models (Aoki et al., 2016; Rauen, 2013; Wu et al., 2011).
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